Browsing by Author "Sandra Alves"

Now showing 1 - 1 of 1

I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis
(Springer India, 2017) Ankur Singh; Rajniti Prasad; Aditya Kumar Gupta; Anil Sharma; Sandra Alves; Maria Francisca Coutinho; Seema Kapoor; Om Prakash Mishra
Mucopolysaccharidosis (MPS) and Mucolipidosis (ML) share common phenotypes (coarse facial features, organomegaly, dysostosis multiplex) despite having different molecular basis. Thus, they pose great diagnostic challenge to treating clinicians. Differentiating between the two conditions requires a battery of tests from screening to molecular diagnosis. Besides discussing differential diagnosis of MPS like features with negative urinary Glycosaminoglycans (GAG), the authors also discuss the utility of p-nitrocatechol sulphate based chemical test as an important screening tool, besides establishing molecular basis in index case. © 2016, Dr. K C Chaudhuri Foundation.